There have long been clinicians and researchers with specific interests in rare and “orphan” disorders.

One of the first such clinicians who some readers may know of was Sir Archibald Garrod. Garrod was a British physician who first characterized alkaptonuria or “black urine disease” in 1902. What is more, he identified this disorder as being an inborn error of metabolism (i.e., a genetic disorder). Garrod’s early studies in this area led to the development of a whole new branch of medicine. read more >